Canonical Allele Identifier: CA279525

Gene: RTEL1 RTEL1-TNFRSF6B

Linked Data

• ClinVar Variation Id: 217520
• ClinVar RCV Id: RCV000201743 ; RCV002517308
• dbSNP Id: rs863225130
• MyVariant Identifiers: chr20:g.62319514T>G (hg19) ; chr20:g.63688161T>G (hg38)
• PubMed: PMID:25607374

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63688161T>G , CM000682.2:g.63688161T>G	GRCh38
NC_000020.10:g.62319514T>G , CM000682.1:g.62319514T>G	GRCh37
NC_000020.9:g.61789958T>G	NCBI36
NG_033901.1:g.35352T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425905.7:n.1292T>G (RTEL1)
ENST00000425905.6:c.1292T>G (RTEL1)
ENST00000508582.7:c.1690T>G (RTEL1)	ENSP00000424307.2:p.Ser564Ala
ENST00000687123.1:n.1448T>G (RTEL1)
ENST00000318100.9:c.949T>G (RTEL1)	ENSP00000322287.5:p.Ser317Ala
ENST00000360203.11:c.1618T>G (RTEL1) MANE Select	ENSP00000353332.5:p.Ser540Ala
ENST00000482936.6:c.1618T>G (RTEL1)	ENSP00000457868.2:p.Ser540Ala
ENST00000318100.8:c.949T>G (RTEL1)	ENSP00000322287.5:p.Ser317Ala
ENST00000360203.9:c.1618T>G (RTEL1)	ENSP00000353332.5:p.Ser540Ala
ENST00000370018.7:c.1618T>G (RTEL1)	ENSP00000359035.3:p.Ser540Ala
ENST00000480273.5:n.1703T>G (RTEL1-TNFRSF6B)
ENST00000482936.5:c.1618T>G (RTEL1-TNFRSF6B)	ENSP00000457868.1:p.Ser540Ala
ENST00000492259.6:c.1702T>G (RTEL1-TNFRSF6B)	ENSP00000457428.1:p.Ser568Ala
ENST00000508582.6:c.1690T>G (RTEL1)	ENSP00000424307.2:p.Ser564Ala
NM_001283009.1:c.1618T>G (RTEL1)	NP_001269938.1:p.Ser540Ala
NM_001283010.1:c.949T>G (RTEL1)	NP_001269939.1:p.Ser317Ala
NM_016434.3:c.1618T>G (RTEL1)	NP_057518.1:p.Ser540Ala
NM_032957.4:c.1690T>G (RTEL1)	NP_116575.3:p.Ser564Ala
NR_037882.1:n.2445T>G (RTEL1-TNFRSF6B)
NM_001283009.2:c.1618T>G (RTEL1) MANE Select	NP_001269938.1:p.Ser540Ala
NM_016434.4:c.1618T>G (RTEL1)	NP_057518.1:p.Ser540Ala
NM_032957.5:c.1690T>G (RTEL1)	NP_116575.3:p.Ser564Ala